Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia
To characterize skin properties in male subjects with HED
|Official Title:||Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members|
- Characterization of skin properties in HED affected male subjects compared with healthy controls [ Time Frame: Two assessments conducted once during study day. ] [ Designated as safety issue: No ]The primary objective of this descriptive study is to use skin assessment techniques to characterize skin properties in male subjects affected by HED compared with healthy controls including determination of the number of sweat glands and the rate of sweating.
- Collecting demographic information and clinical status in male subjects affected by HED using a medical questionnaire. [ Time Frame: Collected once during study day. ] [ Designated as safety issue: No ]
- Testing for the presence of ectodysplasin A (EDA) gene mutations in a subset of subjects enrolled in this study. [ Time Frame: Collected once during study day. ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
|Study Start Date:||July 2010|
|Study Completion Date:||October 2010|
|Primary Completion Date:||July 2010 (Final data collection date for primary outcome measure)|
|HED affected males|
|Unaffected male controls|
This study is designed to obtain information from male subjects with HED and unaffected male control subjects. The study will consist of the standardized collection of data from HED medical history questionnaires and non-invasive tests. A subset of subjects will undergo genetic testing. All data will be collected from families attending the 2010 NFED Family Conference, July 22-24, 2010, in Colorado Springs, CO.
Since HED is a rare disease, it is difficult to obtain reliable data on a sufficient number of subjects in any one region. The NFED Family Conference is a location where families affected with HED come together, and therefore, presents an ideal location to obtain data needed to design future studies. As the procedures are non-invasive and are designed to take a relatively short period of time, subjects can participate in this study while attending the NFED Family Conference.
|United States, Colorado|
|Cheyenne Mountain Resort|
|Colorado Springs, Colorado, United States, 80906|
|Principal Investigator:||Dorothy K Grange, MD||Washington University School of Medicine|